Transposable elements and the metamerismatic evolution of the HLA class I region

  • Jerzy K. Kulski
  • Silvana Gaudieri
  • Roger L. Dawkins
Conference paper

Summary

We have analysed continuous genomic sequence of 1.8 Mb from the HLA class I region of the MHC with a view to understanding the evolution, organisation and sequential interrelationships between members of the multicopy HLA class I and PERB11 (MIC) gene families, human endogenous retroviruses (HERVs) and retroelements that are distributed within this region. Analysis and mapping of genomic sequence from PERB 11.2 (MICB) to HLA-F has revealed that the multicopy HLA and PERB11 (MIC) sequences, HERV-16 (P5 gene family) and associated retroelements such as Alu, LTR, MER and LI are contained within repeated segments that can be classified into at least 6 groups based on the distinctive features of paralogous transposable elements. Most of these segments appear to have evolved from a basic duplication unit or duplicon composed of a HLA class I, HERV-16 (P5) and PERB II (MIC) sequence, and the associated retroelements. Exponential amplification of duplicons by diversifying single and multisegmental duplications has resulted in many copies of pseudogenes and gene fragments, and three subgenomic blocks (alpha, beta, and kappa) that differ in the number, orientation and complexity of duplicons. Retroelements, particularly HERV-16, are closely associated with the breakpoints within and between duplicons (Kulski et al 1999b), suggesting that they have had a major role in the spread and diversity of the multicopy gene families.

From our analyses we conclude that the HLA class I genomic region is a metameric design of three distinct subgenomic blocks that are characterised by the presence of HLA class I, HERV-16 and PERB11 (MIC) sequences and distinctive retroelements. The blocks have evolved metamerismatically by the expansion and contraction of duplicons involving retroelements and basic recombination processes such as duplications, insertions, deletions and translocations. In this context, we also consider the distribution of many transposable elements within the MHC as “bandaids’ or “scars” brought about in response to genomic stress or damage.

Keywords

Transposable elements HLA Evolution Duplication Duplicons 
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Copyright information

© Springer Japan 2000

Authors and Affiliations

  • Jerzy K. Kulski
    • 1
  • Silvana Gaudieri
    • 2
  • Roger L. Dawkins
    • 1
  1. 1.Centre for Molecular Immunology and InstrumentationThe University of Western AustraliaWestern AustraliaAustralia
  2. 2.Centre for Information BiologyNational Institute of GeneticsMishimaJapan

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